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1.
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Int J Legal Med
; 137(6): 1787-1801, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37178278
2.
Unique characteristics of informed consent in clinical genetics and genetic counselling.
Cas Lek Cesk
; 158(1): 38-43, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31046391
3.
First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.
Pediatr Diabetes
; 18(8): 844-847, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28004468
4.
The translocation t(2;11)(p21;q23) without MLL gene rearrangement--a possible marker of good prognosis in myelodysplastic syndrome patients.
Hematol Oncol
; 32(2): 82-6, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23949951
5.
A recurrent synonymous L1CAM variant in a fetus with hydrocephalus.
Hum Genome Var
; 11(1): 4, 2024 Jan 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38263409
6.
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus.
BMC Med Genomics
; 17(1): 29, 2024 Jan 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38254165
7.
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.
Breast
; 75: 103721, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38554551
8.
Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines.
Virchows Arch
; 483(4): 517-526, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37612527
9.
Germline multigene panel testing of patients with endometrial cancer.
Oncol Lett
; 25(6): 216, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37153042
10.
Prevalence of cancer in patients with superficial vein thrombosis and its clinical importance.
J Vasc Surg Venous Lymphat Disord
; 10(1): 26-32, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34089942
11.
Cystic ovarian teratoma as a novel tumor and growth hormone deficiency as a new condition presenting in Multiple Endocrine Neoplasia type 2B: Case reports and review of the literature.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 166(1): 105-111, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-34446941
12.
Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G> T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 163(4): 379-382, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30401990
13.
Thrombophilia testing results in patients with a first venous thromboembolic event: should the selection criteria for testing be revisited?
Int Angiol
; 36(2): 167-173, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-27096232
14.
Cytokine tumor necrosis factor-alpha A promoter gene polymorphism at position -308 G-->A and pediatric inflammatory bowel disease: implications in ulcerative colitis and Crohn's disease.
J Pediatr Gastroenterol Nutr
; 42(5): 479-87, 2006 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-16707968
15.
First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic.
J Pediatr Endocrinol Metab
; 29(6): 749-52, 2016 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27008691
16.
Recurrent pregnancy loss, plasminogen activator inhibitor-1 (-675) 4G/5G polymorphism and antiphospholipid antibodies in Czech women.
Am J Reprod Immunol
; 70(1): 54-8, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23445116
17.
Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.
Genet Test Mol Biomarkers
; 14(1): 3-7, 2010 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-20039784
18.
Urgent termination of pregnancy in pre-eclampsia and panel of antiphospholipid antibodies.
Am J Reprod Immunol
; 62(6): 412-7, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19895376
19.
Multiclonal monoallelic 13q14 interstitial deletion in chronic lymphocytic leukemia.
Leuk Lymphoma
; 54(2): 413-6, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22697045
20.
Recurrent pregnancy loss and frequency of eight antiphospholipid antibodies and genetic thrombophilic factors in Czech women.
Am J Reprod Immunol
; 59(3): 193-200, 2008 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-18275512